X-linked agammaglobulinemia: report on a United States registry of 201 patients
JA Winkelstein, MC Marino, HM Lederman, SM Jones… - Medicine, 2006 - journals.lww.com
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in
the gene for Bruton tyrosine kinase (BTK) that result in the deficient development of B
lymphocytes and hypogammaglobulinemia. Because the disorder is uncommon, no single
institution has had sufficient numbers of patients to develop a comprehensive clinical picture
of the disorder. Accordingly, a national registry of United States residents with XLA was
established in 1999 to provide an updated clinical view of the disorder in a large cohort of …
the gene for Bruton tyrosine kinase (BTK) that result in the deficient development of B
lymphocytes and hypogammaglobulinemia. Because the disorder is uncommon, no single
institution has had sufficient numbers of patients to develop a comprehensive clinical picture
of the disorder. Accordingly, a national registry of United States residents with XLA was
established in 1999 to provide an updated clinical view of the disorder in a large cohort of …